TY - JOUR
T1 - Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13
AU - Bowcock, A. M.
AU - Farrer, L. A.
AU - Cavalli-Sforza, L. L.
AU - Hebert, J. M.
AU - Kidd, K. K.
AU - Frydman, M.
AU - Bonne-Tamir, B.
PY - 1987
Y1 - 1987
N2 - Linkage of both several chromosome 13 DNA markers and the locus for the red cell enzyme esterase D (ESD) to Wilson disease (WD), an autosomal recessive disorder affecting copper metabolism, was investigated in five Middle-Eastern kindreds. The single-copy probe 7D2, identifying the polymorphic region D13S10, was demonstrated to lie 7.5 centiMorgans (cM) from the locus, since a maximum lod score of 4.66 at a recombination frequency of .07 (7.5 cM) was found between the locus for WD (WND) and D13S10. Multipoint linkage analysis between several chromosome 13 markers and WND enables us to propose that the order of markers closely linked to WND is as follows: centromere-D13S10-ESD-WND.
AB - Linkage of both several chromosome 13 DNA markers and the locus for the red cell enzyme esterase D (ESD) to Wilson disease (WD), an autosomal recessive disorder affecting copper metabolism, was investigated in five Middle-Eastern kindreds. The single-copy probe 7D2, identifying the polymorphic region D13S10, was demonstrated to lie 7.5 centiMorgans (cM) from the locus, since a maximum lod score of 4.66 at a recombination frequency of .07 (7.5 cM) was found between the locus for WD (WND) and D13S10. Multipoint linkage analysis between several chromosome 13 markers and WND enables us to propose that the order of markers closely linked to WND is as follows: centromere-D13S10-ESD-WND.
UR - http://www.scopus.com/inward/record.url?scp=0023629855&partnerID=8YFLogxK
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AN - SCOPUS:0023629855
SN - 0002-9297
VL - 41
SP - 27
EP - 35
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 1
ER -